Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043966 | SCV001207738 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001824404 | SCV002073972 | uncertain significance | not provided | 2022-01-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |